These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

82 related articles for article (PubMed ID: 11489280)

  • 21. Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. The French CMT Research Group.
    Brice A; Ravisé N; Stevanin G; Gugenheim M; Bouche P; Penet C; Agid Y
    J Med Genet; 1992 Nov; 29(11):807-12. PubMed ID: 1453432
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Polymorphic short tandem repeats for PCR-based diagnosis of the Charcot-Marie-Tooth 1A duplication in Ukraine.
    Hryshchenko NV; Kravchenko SA; Livshits LA
    Tsitol Genet; 2005; 39(5):56-61. PubMed ID: 16398147
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Charcot-Marie-Tooth disease type 1A: a family study with microsatellites.
    Qu Y; Carpenter NJ; Whetsell L; Smith SP; Say B
    J Okla State Med Assoc; 1996 Nov; 89(11):395-9. PubMed ID: 8972170
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A by multicolor in situ hybridization.
    Lebo RV; Martelli L; Su Y; Li L; Lynch E; Mansfield E; Pua KH; Watson DF; Chueh J; Hurko O
    Am J Med Genet; 1993 Sep; 47(3):441-50. PubMed ID: 8135298
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Duplication of part of chromosome 17 is commonly associated with hereditary motor and sensory neuropathy type I (Charcot-Marie-Tooth disease type 1).
    Hallam PJ; Harding AE; Berciano J; Barker DF; Malcolm S
    Ann Neurol; 1992 May; 31(5):570-2. PubMed ID: 1596093
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Analysis of the DNA duplication 17p11.2 in Charcot-Marie-Tooth neuropathy type 1 pedigrees: additional evidence for a third autosomal CMT1 locus.
    Chance PF; Matsunami N; Lensch W; Smith B; Bird TD
    Neurology; 1992 Oct; 42(10):2037-41. PubMed ID: 1407588
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Duplication analysis in Turkish Charcot-Marie-Tooth type 1A patients using short tandem repeat markers.
    Koç F; Güzel AI; Sarica Y; Kasap H
    Int J Neurosci; 2007 Nov; 117(11):1611-9. PubMed ID: 17917930
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Charcot-Marie-Tooth disease: molecular characterization of patients from central and southern Italy.
    Guzzetta V; Santoro L; Gasparo-Rippa P; Ragno M; Vita G; Caruso G; Andria G
    Clin Genet; 1995 Jan; 47(1):27-32. PubMed ID: 7774040
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Stable inheritance of the CMT1A DNA duplication in two patients with CMT1 and NF1.
    Lupski JR; Pentao L; Williams LL; Patel PI
    Am J Med Genet; 1993 Jan; 45(1):92-6. PubMed ID: 8418668
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Quantitative fluorescence-polymerase chain reaction assay for the detection of the duplication of the Charcot Marie Tooth disease type 1A critical region.
    De Toffol S; Bellone E; Dulcetti F; Ruggeri AM; Maggio PP; Pulimeno MR; Mandich P; Maggi F; Simoni G; Grati FR
    Genet Test Mol Biomarkers; 2010 Apr; 14(2):225-31. PubMed ID: 20187762
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Quantitative measurement of duplicated DNA as a diagnostic test for Charcot-Marie-Tooth disease type 1a.
    Hensels GW; Janssen EA; Hoogendijk JE; Valentijn LJ; Baas F; Bolhuis PA
    Clin Chem; 1993 Sep; 39(9):1845-9. PubMed ID: 8375058
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit.
    Pentao L; Wise CA; Chinault AC; Patel PI; Lupski JR
    Nat Genet; 1992 Dec; 2(4):292-300. PubMed ID: 1303282
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion.
    Liehr T; Rautenstrauss B; Grehl H; Bathke KD; Ekici A; Rauch A; Rott HD
    Hum Genet; 1996 Jul; 98(1):22-8. PubMed ID: 8682501
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Patients homozygous for the 17p11.2 duplication in Charcot-Marie-Tooth type 1A disease.
    LeGuern E; Gouider R; Mabin D; Tardieu S; Birouk N; Parent P; Bouche P; Brice A
    Ann Neurol; 1997 Jan; 41(1):104-8. PubMed ID: 9005872
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Molecular characterization of Charcot-Marie-Tooth patients in 15 pedigrees from France.
    Lucotte G; Berriche S; Bathelier C; Turpin JC; Jacob P; Paquet JM; Pluot M; Vandenberghe A
    Genet Couns; 1995; 6(4):355-60. PubMed ID: 8775423
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Rapid detection of a recombinant hotspot associated with Charcot-Marie-Tooth disease type IA duplication by a PCR-based DNA test.
    Chang JG; Jong YJ; Wang WP; Wang JC; Hu CJ; Lo MC; Chang CP
    Clin Chem; 1998 Feb; 44(2):270-4. PubMed ID: 9474023
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Mutation screening of Cx32 in Han Chinese patients with Charcot-Marie-Tooth disease.
    Zhang RX; Luo W; Zi XH; Xia K; Cai F; Xiao JF; Zhao GH; Zhang FF; Shen L; Jiang H; Tang BS
    Beijing Da Xue Xue Bao Yi Xue Ban; 2005 Feb; 37(1):68-71. PubMed ID: 15719046
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations.
    Numakura C; Lin C; Ikegami T; Guldberg P; Hayasaka K
    Hum Mutat; 2002 Nov; 20(5):392-8. PubMed ID: 12402337
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group.
    Raeymaekers P; Timmerman V; Nelis E; Van Hul W; De Jonghe P; Martin JJ; Van Broeckhoven C
    J Med Genet; 1992 Jan; 29(1):5-11. PubMed ID: 1552545
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Mosaicism for Charcot-Marie-Tooth disease type 1A: onset in childhood suggests somatic reversion in early developmental stages.
    Rautenstrauss B; Liehr T; Fuchs C; Bevot A; Bornemann A; Postler E; Meyermann R; Uhlhaas S; Friedl W; Michaelis R
    Int J Mol Med; 1998 Feb; 1(2):333-7. PubMed ID: 9852234
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 5.